Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/219671
Title: Distinctive genomic features of human T-lymphotropic virus type 1-related adult T-cell leukemia-lymphoma in Western populations
Author: Sanches, José Antonio
Myers, Caroline S.
Williams, Eli
Barrionuevo Cornejo, Carlos
Pongas, Georgios
Toomey, Ngoc L.
Battistella, Maxime
Mo, Samuel
Pulitzer, Melissa
Moskaluk, Cristopher A.
Bhagat, Govind
Ofori, Kenneth
Davick, Jonathan J.
Servitje Bedate, Octavio
Miyashiro, Denis
Climent, Fina
Ringbloom, Kimberley
Duenas, Daniela
Law, Calvin
Casavilca Zambrano, Sandro
Malpica, Luis
Beltran, Brady E.
Castro, Denisse
Barreto, Luciana
Brites, Carlos
Chapman, Jennifer R.
Choi, Jaehyuk
Gru, Alejandro A.
Ramos, Juan C.
Keywords: Infeccions per VIH
Genòmica
Leucèmia
HIV infections
Genomics
Leukemia
Issue Date: Dec-2024
Publisher: Ferrata Storti Foundation
Abstract: Adult T-cell leukemia-lymphoma (ATLL) is an aggressive malignancy driven by human T-cell leukemia virus type 1 (HTLV-1). Although patients from the Western hemisphere (Afro-Caribbean and South American) face worse prognoses, our understanding of ATLL molecular drivers derives mostly from Japanese studies. We performed multi-omic analyses to elucidate the genomic landscape of ATLL in Western cohorts. Recurrent deletions and/or damaging mutations involving FOXO3, ANKRD11, DGKZ, and PTPN6 implicate these genes as potential tumor suppressors. RNA-sequencing, published functional data and in vitro assays support the roles of ANKRD11 and FOXO3 as regulators of T-cell proliferation and apoptosis in ATLL, respectively. Survival data suggest that ANKRD11 mutation may confer a worse prognosis. Japanese and Western cohorts, in addition to acute and lymphomatous subtypes, demonstrated distinct molecular patterns. GATA3 deletion was associated with chronic cases with unfavorable outcomes. IRF4 and CARD11 mutations frequently emerged in relapses after interferon therapy. Our findings reveal novel putative ATLL driver genes and clinically relevant differences between Japanese and Western ATLL patients.
Note: Reproducció del document publicat a: https://doi.org/10.3324/haematol.2024.285233
It is part of: Haematologica, 2024, vol. 109, num.12, p. 4021-4039
URI: https://hdl.handle.net/2445/219671
Related resource: https://doi.org/10.3324/haematol.2024.285233
ISSN: 0390-6078
Appears in Collections:Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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